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Gene: Mbd5 MGI:2138934

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Gene Summary

Name:
methyl-CpG binding domain protein 5
Synonyms:
OTTMUSG00000012483,  9430004D19Rik,  C030040A15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-05
decreased leukocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 4.96×10-05
decreased exploration in new environment Mbd5tm1b(EUCOMM)Wtsi HET Early adult 6.00×10-07
abnormal lip morphology Mbd5tm1b(EUCOMM)Wtsi HET Early adult 1.08×10-05
short tibia Mbd5tm1b(EUCOMM)Wtsi HET Early adult 1.55×10-05
decreased locomotor activity Mbd5tm1b(EUCOMM)Wtsi HET   Early adult 2.00×10-05
preweaning lethality, complete penetrance Mbd5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased total retina thickness Mbd5tm1b(EUCOMM)Wtsi HET Early adult 8.68×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Mbd5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mbd5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Short attention span, Ataxia, Micrognathia, Prominent nose, Bulbous nose, ... OMIM:156200
2Q23.1 Microdeletion Syndrome
Tented upper lip vermilion, Ataxia, Sandal gap, Hip dysplasia, Everted lower lip vermilion, Short... ORPHA:228402

The table below shows human diseases predicted to be associated to Mbd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we... ORPHA:314811
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... OMIM:615961
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314802
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnata... OMIM:232700
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropi... ORPHA:453533
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Pyknoachondrogenesis
Stillbirth OMIM:265880
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Short stature, Cachexia, Splenomega... ORPHA:1133
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postna... OMIM:616113
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... ORPHA:369
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Decreased b... ORPHA:231140
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly ORPHA:2576
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:95619
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Hypogonadot... OMIM:612079
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Mehmo Syndrome
Small for gestational age, Hypoglycemia, Decreased response to growth hormone stimulation test, O... OMIM:300148
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... OMIM:613986
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Temple Syndrome
Short stature, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:254516
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
2P21 Microdeletion Syndrome
Hypoglycemia, Growth delay, Long eyelashes, Hypogonadism, Failure to thrive ORPHA:163693
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Median cleft lip, Polydactyly OMIM:300484
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Severe short stature, Cachexia, Growt... ORPHA:3242
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Short sta... ORPHA:157954
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Severe short stature, Pituitary dwarfism, Anterior ... OMIM:173100
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... ORPHA:2047
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short stature, Low anterior hairline, Delayed thelarche... OMIM:616033
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... ORPHA:42
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenome... OMIM:613027
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni... OMIM:202200
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Cry... ORPHA:95496
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Fine hair, ... ORPHA:231137
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Donohue Syndrome
Postnatal growth retardation, Adipose tissue loss, Precocious puberty, Hyperinsulinemia, Cholesta... OMIM:246200
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... ORPHA:73272
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased hepatic glycogen... OMIM:261750
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Reduced circulating pro... ORPHA:91355
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... OMIM:614736
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Short stature, Decreased response to growth hormone ... ORPHA:739
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ... ORPHA:90695
Laryngeal Neuroendocrine Tumor
Weight loss, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617950
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of... ORPHA:54595
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p... ORPHA:813
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis OMIM:232400
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, ... ORPHA:398069
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... OMIM:620303
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Hypoglycemia, Hypogonadotropic hypogonadism, Long eyelash... ORPHA:48431
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:98754
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Alo... ORPHA:293978
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Short stature ORPHA:369873
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:98793
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Proportionate short stature, Small for ge... ORPHA:391408
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function OMIM:246900
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:177904
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia ORPHA:289504
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... ORPHA:177901
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hype... ORPHA:2089
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycys... ORPHA:3085
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Short humerus,... OMIM:607143
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay OMIM:306000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:245400
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Septo-Optic Dysplasia Spectrum
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Abnorma... ORPHA:3157
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Weight loss, Abnormal testi... ORPHA:317
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo... ORPHA:2232
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Mcdonough Syndrome
Cryptorchidism, Synophrys, Short stature, Cachexia ORPHA:2471
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic failure, Failure to thrive ORPHA:2394
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Laron Syndrome
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... ORPHA:633
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Growth delay, Adrenal insufficiency,... ORPHA:75233
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue los... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... ORPHA:363400
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618835
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618839
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Larg... OMIM:616026
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:614702
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Cog2-Cdg
Small pituitary gland, Decreased liver function ORPHA:435934
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Small pituitary gland OMIM:617395
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Cryptorch... ORPHA:397590
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Testicular semi... OMIM:180860
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Short stature, Cryptorchidism, Frontal upsweep... ORPHA:93932
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... ORPHA:95494
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thick eyebrow, Short stature, Decreased response to growth hormone stimulation test, Fasting hypo... ORPHA:436174
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... ORPHA:79239
Deeah Syndrome
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... OMIM:619004
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Ankle flexion contracture, Hypoglycemia OMIM:618120
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Fasting hyperi... ORPHA:71212
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dystrophic f... ORPHA:2930
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Cachexia ORPHA:97229
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Recurrent hypo... OMIM:616817
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Increased... ORPHA:264580
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia ORPHA:664
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... ORPHA:298
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation OMIM:616801
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia, Thick eyebrow ORPHA:85278
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... ORPHA:90003
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Severe... OMIM:609069
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Inability to walk, Abnormal long bone m... ORPHA:356961
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Focal T2 hyperintense thalamic lesion, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... OMIM:606176
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... ORPHA:199299
Septooptic Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:182230
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hyperglycemia, ... OMIM:615453
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Depressed nasal bridge, Micrognathia, Obesity, Attention deficit hyperactiv... ORPHA:444002
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Congenital adrenal hyperplasia, Cryp... ORPHA:90791
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Intrauterine growth retardation, Hypoglycemia, Small for gestational age OMIM:618253
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... ORPHA:2849
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... OMIM:618186
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... ORPHA:371364
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... ORPHA:69076
Tetrasomy 12P
Sparse hair, Cachexia, Short stature, Sparse eyebrow ORPHA:884
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Ketotic hypoglycemia, Hepatocellular ... ORPHA:79240
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Cog8-Cdg
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia ORPHA:95428
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Failure to thrive, Pancreatitis OMIM:606054
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma,... ORPHA:109
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia OMIM:616638
Webb-Dattani Syndrome
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... OMIM:615926
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Generalized hirsutism, Cachexia ORPHA:1933
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... ORPHA:217346
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... OMIM:614921
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... ORPHA:95613
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:156
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Hepatic steatos... OMIM:231530
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... OMIM:256810
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Failure to thriv... OMIM:618005
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Immunodeficiency, Common Variable, 10
Hypoglycemia, Alopecia totalis, Decreased response to growth hormone stimulation test, Central ad... OMIM:615577
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... OMIM:248370
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnor... ORPHA:1988
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Tuberculosis
Weight loss ORPHA:3389
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... ORPHA:97282
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97283
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Cleft upper lip, Metaphyseal wi... OMIM:613091
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... OMIM:602111
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short st... OMIM:613457
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis OMIM:251000
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Leprechaunism
Reduced subcutaneous adipose tissue, Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Postn... ORPHA:508
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Cry... OMIM:619075
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Majeed Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophr... ORPHA:85293
Short Syndrome
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... ORPHA:3163
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Short tibia, Short femur, Talipes equinovarus OMIM:620306
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation OMIM:620275
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Pre... OMIM:603671
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia,... ORPHA:37042
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Neonatal death, Intrauterine growth retardation, Failure... OMIM:619055
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:608779
Hsd10 Disease
Choreoathetosis, Short attention span, Abnormal social behavior, Ataxia ORPHA:391417
Orofaciodigital Syndrome Type 2
Finger syndactyly, Median cleft lip, Broad hallux, Micrognathia, Short tibia, Central retinal ves... ORPHA:2751
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Hypertrichosis OMIM:619983
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... OMIM:615849
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failure to thrive ORPHA:2609
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... OMIM:619418
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Mirage Syndrome
Short stature, Hypoglycemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism, ... OMIM:617053
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Adrenal hypoplasia, Pri... ORPHA:95409
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne... OMIM:610965
Idiopathic Achalasia
Weight loss ORPHA:930
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... OMIM:232200
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Short stature, D... OMIM:203800
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly ORPHA:824
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Dispr... OMIM:263520
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... OMIM:231680
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia OMIM:220120
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... OMIM:617156
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failur... OMIM:602579
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Tented upper lip vermilion, Micrognathia, Tibial bowing, Hyp... ORPHA:96334
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... ORPHA:348
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevat... OMIM:620300
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Reni Syndrome
Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... ORPHA:1827
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... OMIM:613327
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt... ORPHA:96182
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, ... OMIM:617190
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Chorioretinal coloboma ORPHA:1116
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia, Camptodactyly OMIM:301032
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Thin vermilion border, Irritability, 2-3 toe syndactyly ORPHA:391307
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Small pituitary gland, Disproportionate short-limb short stature, Hypertrich... OMIM:619479
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Cleft upper lip, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly... OMIM:206920
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Weight loss ORPHA:30925
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... ORPHA:1332
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Small for gestational age, Short stature, Hypoglycemia, Chronic pancre... OMIM:307030
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic... ORPHA:746
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... OMIM:619503
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, H... OMIM:276700
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... ORPHA:289548
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Huntington Disease-Like 2
Weight loss ORPHA:98934
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:608836
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97278
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Diabetes melli... ORPHA:191
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Short stature, Postnatal growth retardation, Thyroiditis... OMIM:212750
Kabuki Syndrome 2
Short stature, Highly arched eyebrow, Postnatal growth retardation, Hirsutism, Long eyelashes, De... OMIM:300867
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia ORPHA:300605
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Hypoglycemia OMIM:210210
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Cachexia, H... ORPHA:275761
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Pancreatic fibrosis, He... OMIM:232220
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Short stature, Hypoglycemia, Prolonged neonatal jaundice, High anterior hairline OMIM:233600
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive,... ORPHA:99901
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Curly hair, Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Obesity OMIM:608624
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Short stature, Hypogonadotropic hypog... ORPHA:90794
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Thick lower lip vermilion, Flat acetabular r... OMIM:600002
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Nail dystrophy, Cachexia OMIM:175500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Diabetes mellitus, Impaired glucose tolerance, Elevated... OMIM:617253
Rett Syndrome
Short stature, Cachexia OMIM:312750
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... ORPHA:2905
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic st... OMIM:124000
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Intrauterine growth retardation, Hepatic failure, Hypoglycemia OMIM:619355
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Decreased response to gro... ORPHA:177907
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion cont... OMIM:151050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Hypoglycemia, Decreased response to growth hormone stimulation test, Flexion contr... OMIM:616007
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth... ORPHA:66634
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Short stature, Small for gestational age, Anterior pituitary hypopla... ORPHA:464306
Tibial Hemimelia
Absent tibia OMIM:275220
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Short stature, Hypoglycemia, S... OMIM:613658
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Hypothyroidism, Neonatal hypoglyc... ORPHA:445038
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Decreased liver fu... ORPHA:26791
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... ORPHA:96263
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, C... ORPHA:3380
Leigh Syndrome
Alopecia, Multiple joint contractures, Hypoglycemia, Abnormal thalamic MRI signal intensity, Grow... ORPHA:506
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Intrauterine growt... ORPHA:808
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... ORPHA:26793
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hypothyroidism, Hepatocellul... ORPHA:79259
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Cholecyst... OMIM:301066
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive ORPHA:1842
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Umbilical hernia, Hypoglycemia OMIM:614501
Hirschsprung Disease
Neoplasm of the thyroid gland, Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Chronic Hiccup
Weight loss ORPHA:396
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Schwartz-Jampel Syndrome
Decreased testicular size, Hip contracture, Inguinal hernia, Abnormal eyebrow morphology, Short s... ORPHA:800
Sotos Syndrome
Sparse eyebrow, Cryptorchidism, Increased body weight, Glucose intolerance, Prolonged neonatal ja... OMIM:117550
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Hypoketotic h... ORPHA:159
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea... OMIM:267000
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... OMIM:164745
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Intrauterine growth retardation, Neonatal hypoglycemia, Congenital foot contractures ORPHA:565624
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... ORPHA:97287
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema OMIM:152800
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis... OMIM:616271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic... ORPHA:20
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Alg12-Cdg
Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Cryptorchidism, Low ... ORPHA:79324
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... ORPHA:905
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Hernia, Weight loss ORPHA:26790
Isaacs Syndrome
Weight loss ORPHA:84142
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation... OMIM:616263
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Abnormality of the parathyroid gla... ORPHA:2552
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Premature thelarche, Hypothyroidism, Premature pubarche OMIM:616878
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Holoprosencephaly
Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congenital diaphragma... ORPHA:2162
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc... OMIM:617237
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Growth delay, Fai... ORPHA:17
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th toe ORPHA:457279
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Short stature, Cachexia ORPHA:1969
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Microphthalmia, Syndromic 3
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... OMIM:206900
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... ORPHA:100080
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... OMIM:250250
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Hypogonadism... ORPHA:1328
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Shigellosis
Hypoglycemia, Failure to thrive in infancy, Peritonitis, Cholestasis, Splenic abscess, Hepatic fa... ORPHA:810
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... OMIM:229600
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Hypogonadotropic hypogonad... OMIM:176270
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Wei... ORPHA:100085
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili... ORPHA:309271
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive ORPHA:3008
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Immunodeficiency 31C
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Weight loss, Growth delay, Delayed ... OMIM:614162
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... ORPHA:79474
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Long fibula, Cognitive impairment, Abnormal metaphysis morphology, Lymphopenia, Anemia ORPHA:935
Menkes Disease
Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Woolly hair, Atypical scarring of skin, ... ORPHA:565
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Lamb-Shaffer Syndrome
Broad nasal tip, Abnormal social behavior, Ataxia, Micrognathia ORPHA:530983
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... OMIM:617425
14Q22Q23 Microdeletion Syndrome
Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut... ORPHA:3208
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... ORPHA:171
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia, Low anterior hairline OMIM:620224
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec... ORPHA:760
Huntington Disease-Like 2
Weight loss OMIM:606438
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Ovarian neoplasm, ... ORPHA:2221
Pgm3-Cdg
Hemolytic anemia, Brachydactyly, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxi... ORPHA:443811
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Delayed puberty, Hepa... OMIM:232240
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Postnat... OMIM:620305
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Growth delay, Chronic hepatic failure ORPHA:469
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Hepatic failure, Failure to thrive OMIM:252010
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Broad met... ORPHA:508533
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sparse axillary hair... OMIM:181450
X-Linked Agammaglobulinemia
Alopecia, Short stature, Hepatitis, Weight loss, Cellulitis, Failure to thrive ORPHA:47
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Elevated circulating aspartate aminotransferase con... OMIM:619534
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Hypoglycemia, Camptodactyly of finger, Abnormal dental enamel morpholog... ORPHA:2710
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... ORPHA:100082
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Prolactinoma
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... ORPHA:2965
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm ... ORPHA:508542
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Coarse hair, Poster... ORPHA:75389
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Cognitive impairment, ... OMIM:616541
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Jaundice, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:79282
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Talipes equinovarus, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Growth delay, Neonatal death, Failure to thrive, Neonatal hypoglycemia OMIM:617248
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Short stature, Aplasia of the right hemidiaphragm, Highly arched eyebrow, Ante... OMIM:619841
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Juvenile Polyposis Of Infancy
Cachexia, Short stature, Subcutaneous lipoma ORPHA:79076
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital d... ORPHA:116
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Growth delay, Hepatic fibr... ORPHA:2072
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries ORPHA:137675
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Juvenile Huntington Disease
Weight loss ORPHA:248111
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd... OMIM:236680
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic failure, Hepatic calcification, Hypoketotic hypoglycemia ORPHA:157
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... ORPHA:466791
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Weight loss, Incre... ORPHA:100075
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Nijmegen Breakage Syndrome
Abnormal hair quantity, Short stature, Cachexia, Abnormal hair morphology, Low anterior hairline ORPHA:647
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure t... ORPHA:95427
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... ORPHA:309263
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:391
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Macular atrophy, Cleft upper lip, Micrognathia, Oc... OMIM:242840
Eosinophilic Fasciitis
Fasciitis, Weight loss, Cellulitis ORPHA:3165
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Weight loss ORPHA:142
Rhabdoid Tumor
Neoplasm of the liver, Weight loss ORPHA:69077
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Failure to thrive ORPHA:649
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss ORPHA:507
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228308
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss ORPHA:86884
Immunodeficiency 27A
Splenomegaly, Hepatosplenomegaly, Weight loss OMIM:209950
Simpson-Golabi-Behmel Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... ORPHA:373
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Ataxia, Anteverted nares, Bulbous nose, Mesiodens, Dysmetria, Positive Romberg sign, N... ORPHA:314647
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Cholera
Hypoglycemia ORPHA:173
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... ORPHA:144
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Highly arched eyebrow, Increased hepato... OMIM:220111
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Cachexia, Testicular neopl... ORPHA:744
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture OMIM:118650
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Lethargy, Thrombocytopenia ORPHA:319218
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Micrognathia, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral talipes equin... OMIM:619708
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:99413
Mosaic Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:99228
Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:99226
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... ORPHA:440437
Turner Syndrome
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... ORPHA:881
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperp... OMIM:130650
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Gm1 Gangliosidosis
Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Weight loss, Hepatosplenom... ORPHA:354
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Holocarboxylase Synthetase Deficiency
Growth delay, Alopecia, Weight loss ORPHA:79242
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:3226
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia ORPHA:2268
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... OMIM:613179
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Focal Myositis
Weight loss ORPHA:48918
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... ORPHA:100086
Perry Syndrome
Weight loss ORPHA:178509
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Huntington Disease-Like 1
Weight loss ORPHA:157941
Ataxia-Telangiectasia
Ataxia, Inability to walk, Acute lymphoblastic leukemia, T lymphocytopenia, Choreoathetosis, Prog... OMIM:208900
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Growth dela... ORPHA:251071
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Weight loss, Abnormal ... ORPHA:54251
Choreoacanthocytosis
Bradyphrenia, Short attention span, Impaired vibratory sensation, Temporomandibular joint crepitu... ORPHA:2388
Felty Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis ORPHA:47612
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Short stature, Failure to thrive in in... OMIM:219800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Marfan Syndrome
Inguinal hernia, Slender build, Cachexia ORPHA:558
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... ORPHA:90062
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Costello Syndrome
Curly hair, Short stature, Hypoglycemia, Achilles tendon contracture, Sparse hair, Failure to thrive OMIM:218040
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Short attention span, Ataxia, Micrognathia, Prominent nose, Bulbous nose, ... OMIM:156200
Stickler Syndrome
Slender build, Short stature, Abnormal dental enamel morphology, Cachexia ORPHA:828
Takayasu Arteritis
Weight loss ORPHA:3287
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Small for ... ORPHA:93357
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia, Large for gestational age, Sparse eyebrow, Slender build, Broad eyebrow ORPHA:457359
Aggressive Systemic Mastocytosis
Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Decreased liver function ORPHA:98850
Polymyositis
Hepatomegaly, Chondrocalcinosis, Weight loss ORPHA:732
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Holoprosencephaly 1
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Retrognathia, Irritability, ... ORPHA:1675
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypothyroidism OMIM:613673
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Jaundice, Weight loss, Ovarian neoplasm, Pancreatitis ORPHA:370348
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability ORPHA:447997
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:29072
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Thyroiditis, Hepatitis, Weight loss ORPHA:139402
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Weight loss, Hypogonadism, Decrease... ORPHA:85450
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Osteosarcoma
Weight loss ORPHA:668
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... ORPHA:100078
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Chronic Beryllium Disease
Weight loss ORPHA:133
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... OMIM:218330
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Cleft upper lip, Absent radius, Short thumb, Micr... OMIM:214800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:276621
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Decreased b... ORPHA:314621
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Short stature, Postnatal growth retardation, Splenome... ORPHA:576
Cap Polyposis
Weight loss ORPHA:160148
Liposarcoma
Weight loss ORPHA:69078
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Polyarteritis Nodosa
Weight loss ORPHA:767
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Giant Cell Arteritis
Alopecia, Hepatic failure, Diabetes insipidus, Weight loss ORPHA:397
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... ORPHA:273
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Short stature, Weight loss, Failure to thrive ORPHA:37
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Depressed nasal bridge, Ataxia OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Prominent nasal tip, Pain insensitivity, Broad nasal tip, Hair-pulling, Wi... OMIM:620330
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Bulbous nose, Dental malocclusion, Obesity, Wide nasal bri... ORPHA:48652
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Refractory Celiac Disease
Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss ORPHA:398063
Orofaciodigital Syndrome Type 4
Finger syndactyly, Median cleft lip, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial ... ORPHA:2753
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Hypoglycemia, Orchitis, Jaundice, Pancreatitis ORPHA:99826
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Flexion contracture, Weight loss, Hepatosplenomegaly, Enthesitis ORPHA:85408
Kinsship Syndrome
Thin upper lip vermilion, Pes planus, Micrognathia, Coxa valga, Thick lower lip vermilion, Hip di... OMIM:619297
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Primary Intestinal Lymphangiectasia
Growth delay, Peritoneal effusion, Weight loss ORPHA:90362
Yao Syndrome
Weight loss OMIM:617321
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Cleft upper lip, Osteopathia striata, T... OMIM:300373
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Chorea, Depression, Progressive gait ataxia, Dement... ORPHA:646
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatosplenome... ORPHA:781
Perry Syndrome
Weight loss OMIM:168605
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Loeffler Endocarditis
Weight loss ORPHA:75566
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Trichotillomania
Hair-pulling OMIM:613229
Al Amyloidosis
Hepatomegaly, Abnormality of the liver, Abnormal salivary gland morphology, Weight loss ORPHA:85443
Igg4-Related Aortitis
Weight loss ORPHA:449400
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Cachexia ORPHA:75565
Oromandibular Dystonia
Weight loss ORPHA:93958
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Prominent nasal bridge, Thick nasal alae, Underdeveloped nasal alae, B... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Prominent nasal bridge, Thick nasal alae, Underdeveloped nasal alae, B... ORPHA:363958
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Rheumatoid Arthritis
Weight loss OMIM:180300
Ménétrier Disease
Weight loss ORPHA:2494
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Fatal Familial Insomnia
Weight loss OMIM:600072
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Weight loss ORPHA:67
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Intrauterine growth retardati... OMIM:615846
2Q23.1 Microdeletion Syndrome
Tented upper lip vermilion, Ataxia, Sandal gap, Hip dysplasia, Everted lower lip vermilion, Short... ORPHA:228402
Pneumocystosis
Weight loss ORPHA:723
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Fanconi Anemia
Short stature, Cryptorchidism, Weight loss, Growth delay, Abnormality of the liver, Hypogonadism,... ORPHA:84
Mend Syndrome
Prominent nasal bridge, Micrognathia, Abnormal social behavior, Abnormal nasal bridge morphology,... ORPHA:401973
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Weight loss ORPHA:98849
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Erdheim-Chester Disease
Retroperitoneal fibrosis, Hypogonadotropic hypogonadism, Diabetes insipidus, Weight loss ORPHA:35687
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... ORPHA:79318
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
African Trypanosomiasis
Hepatomegaly, Alopecia, Abnormality of the endocrine system, Splenomegaly, Jaundice, Weight loss,... ORPHA:3385
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Simple Cryoglobulinemia
Viral hepatitis, Weight loss ORPHA:91139
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Nocardiosis
Liver abscess, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Cellulitis ORPHA:31204
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Abnormal dental enamel morphology, Weight loss ORPHA:79430
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion... ORPHA:2020
Stevens-Johnson Syndrome
Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss ORPHA:36426
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, T... ORPHA:449395
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hashimoto thyroiditis, Weight loss ORPHA:49041
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Splenomegaly, Orchitis, We... ORPHA:1304
Toxic Epidermal Necrolysis
Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss ORPHA:537
Sarcoidosis
Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Enlar... ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of paro... ORPHA:79078
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss ORPHA:52417
Sotos Syndrome
Hip contracture, Inguinal hernia, Ankle flexion contracture, Sparse anterior scalp hair, Bilatera... ORPHA:821
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Familial Thrombocytosis
Splenomegaly, Weight loss ORPHA:71493
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Williams Syndrome
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Failure to thrive in infancy, Microgn... ORPHA:904
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Castleman Disease
Jaundice, Weight loss ORPHA:160
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Pancreatitis, Weight loss ORPHA:900
Riddle Syndrome
Short stature, Weight loss ORPHA:420741
Reactive Arthritis
Weight loss, Dystrophic fingernails, Enthesitis ORPHA:29207
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Tuberous Sclerosis Complex
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Shagreen patch ORPHA:805
Rat-Bite Fever
Pancreatitis, Parotitis, Weight loss ORPHA:31205
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Splenomegaly, Weight loss, Enlargement of ... ORPHA:50918
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Weight loss ORPHA:60025
Multiple Myeloma
Splenomegaly, Weight loss ORPHA:29073
Dermatomyositis
Abnormal hair quantity, Weight loss, Chondrocalcinosis, Cellulitis ORPHA:221
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Enlarged lacrimal glands, Weight loss, Abnormal salivary gland morpho... OMIM:181000
Postinfectious Vasculitis
Orchitis, Viral hepatitis, Weight loss ORPHA:48435
Behçet Disease
Orchitis, Splenomegaly, Pancreatitis, Weight loss ORPHA:117
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Alopecia, Fasciitis, Flexion contracture, Weight loss, Nail dystrophy ORPHA:99921
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Hepatitis, Weight loss OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mbd5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbd5.

No publications found that use IMPC mice or data for Mbd5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mbd5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mbd5tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbd5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mbd5tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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